ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met)

dbSNP: rs2152389359
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227644 SCV002506700 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2021-06-04 criteria provided, single submitter clinical testing

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